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NBAS/RALF deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Pelger-Huët anomaly, which is characterized by a hypolobulation of granulocytes, was present in all affected Yakut individuals, but only in some of the other patients [1, 3, 8]. There may be hypogammaglobulinemia and reduced natural killer cells, which can be associated with frequent infections [3, 8]. Possibly, there is an association with autoimmune diseases, as out of 14 patients one had celiac disease and one inflammatory bowel disease (Crohn’s disease) [3].
Benign Disorders of Leukocytes
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
Gene L. Gulati, Zoran Gatalica, Bong H. Hyun
Pelger-Huet anomaly is a benign autosomal dominant anomaly affecting primarily granulocytes, which are characterized by either bilobed nuclei (heterozygous form) or rounded nuclei (homozygous form) with coarsely clumped chromatin. The heterozygous form occurs in 1 in 6000 births, while the homozygous form is rare. The appearance of nuclei in neutrophils is classically described as “pince-nez” (a form of spectacles without ear pieces, very popular in Europe in the 1920s and 1930s). The more modern description compares them with the bikini tops (no straps). Nuclear chromatin is clumped in essentially all nucleated cells of the blood and bone marrow. In the heterozygous form, approximately 80% of neutrophils have classical bilobed nuclei, while a minor proportion has oblong, dumbbell, or peanut-shaped nuclei. A few neutrophils may have three-lobed nuclei, but it is rare, if not almost impossible, to find a four-lobed neutrophil. Pelger-Huet neutrophils are sometimes mistakenly identified as left shift, leading to unnecessary treatment. These cells function and survive normally. Affected individuals have normal resistance to infection. Acquired or pseudo-Pelger-Huet anomaly is more common and is associated with myelodysplastic syndromes, acute and chronic myeloid leukemias, HIV infection, and with the use of sulfonamides, colchicine, taxoid, etc. This acquired nuclear aberration is usually seen in minority of granulocytes and is a transient finding.
Benzene Hematotoxicity
Published in Muzaffer Aksoy, Benzene Carcinogenicity, 2017
In one patient with benzene-mediated aplastic anemia in our series, Pelger Huet anomaly had been detected following complete remission.87 An incomplete family study did not confirm this inherited leukocyte anomaly, but the persistence of this finding for 2.5 years following his complete recovery is strongly in favor of true Pelger-Huet anomaly. Interestingly, this pancytopenic patient with a Pelger-Huet anomaly, showed a rapid clinical and hematological recovery. This observation prompted us to accept the possibility that such a congenital anomaly does not aggrevate the hematological effects of chronic benzene toxicity.87
Pseudo Pelger-Huët anomalies as potential biomarkers for acute exposure radiation dose in rhesus macaques (Macaca mulatta)
Published in International Journal of Radiation Biology, 2022
Joshua M. Hayes, John D. Olson, Yuiko Chino, J. Daniel Bourland, J. Mark Cline, Thomas E. Johnson
While the Pelger-Huët anomaly and pseudo Pelger-Huët anomalies can be seen in any granulocyte, PPHAs are only quantified in neutrophils because they are the most abundant leukocyte in peripheral blood. If the cell morphology is induced from an outside stimulus, such as an exposure to a toxin or ionizing radiation the cells are pseudo Pelger-Huët anomalies (PPHAs). PPHAs are distinguishable from other neutrophils in a peripheral blood smear by two factors. The nucleus of the PPHA is bilobular with two lobes that can take on several different shapes and sizes, and the two segments are connected by a very thin nuclear bridge (Goans et al. 2015). While many of the images of PPHAs display a perfectly round to bean-like structure of the two lobes, many of them present with an obscure shape that can be somewhat misleading to the evaluator. Several examples of PPHAs with thin bridges can be seen in Figure 2. A PPHA with an obscure shape to its two lobes and the most common morphology for a neutrophil can be seen in Figure 3.
SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS
Published in Fetal and Pediatric Pathology, 2018
Xin Li, Qing Cheng, Niu Li, Guoying Chang, Yu Ding, Juan Li, Yiping Shen, Jian Wang, Xiumin Wang
At 11 years, the boy had an acute airway infection and visited our hospital again. Laboratory evaluation showed hypogammaglobulinemia with low immunoglobulin IgG (3.80g/L [reference range:7.51–15.60 g/L]), IgA (0.24g/L [reference range:0.52–4.53g/L]), and IgM (0.44g/L [reference range:0.46–3.04 g/L]), as well as reduced natural killer (NK) cells (72.2M/L; reference range: 150–1100 M/L). Blood cell count was normal but blood smears showed the Pelger–Huet anomaly of granulocytes (Figure 4). The acute respiratory infection resolved quickly with standard treatment and the boy did not require intravenous immunoglobulin (IVIG).